ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.825G>A (p.Thr275=)

gnomAD frequency: 0.00001  dbSNP: rs767301887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176548 SCV001340567 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429797 SCV002681049 likely benign Cardiovascular phenotype 2022-07-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003631179 SCV004552573 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-05-22 criteria provided, single submitter clinical testing

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